Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 7 | 24282719 | upstream gene variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 24290600 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | X | 15525068 | intron variant | C/T | snv | 4.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 11 | 123642798 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 11 | 102724404 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 8 | 42753056 | 3 prime UTR variant | G/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | X | 15523993 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.040 | 15 | 78602554 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 8 | 26765867 | 3 prime UTR variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.882 | 0.200 | 7 | 24289514 | synonymous variant | C/T | snv | 0.43 | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.882 | 0.160 | 12 | 102444737 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 15 | 32151612 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 20 | 63362813 | intron variant | G/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.080 | 18 | 24460578 | upstream gene variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 8 | 42753436 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 8 | 42774171 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.882 | 0.080 | 2 | 165354232 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.700 | 0 |